ClinGen Allele Registry
Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: BBS1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000431187.1:p.Glu66Val
CA381457367
ENST00000525809.5:c.197A>T